Variant (rsID / SNP)

rs4669781

rs4669781 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LPIN1. Location: chromosome 2, position 11,943,082. Clinical significance in the table: Benign.

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Reference-table entries

LPIN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:11943082
Cytoband: 2p25.1
HGVS: NM_001349206.2(LPIN1):c.1936C>T (p.Pro646Ser)
Allele change: Missense_P695S

Associated conditions / phenotypes

Myoglobinuria, acute recurrent, autosomal recessive

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.